Varaico: Literature-Extracted Genetic Variants

Gene:ANO6
Variant:p.E547Q

ANO6

130 papers

RefSeq Summary

This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell s...

Pfam Domains

Anoct_dimeraa 61–284UCSCAnoctamin, dimerisation domain
Anoctaminaa 287–870UCSCCalcium-activated chloride channel

Gene Aliases

HGNC Name

anoctamin 6

HGNC Previous Symbol

TMEM16F

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001025356.3
p.E547Q
c.1639G>C
Surrounding Variants
1 paper
NM_001025356.3
p.N548_M552delFs
c.1644_1654del11
1 paper
NM_001025356.3
p.S549R
c.1645A>C
1 paper
NM_001025356.3
p.Y546del1
c.1636_1637delTAT
2 papers
NM_001025356.3
p.S549N
c.1646G>A
1 paper
NM_001025356.3
p.S549R
c.1647C>A
1 paper
NM_001025356.3
p.S549R
c.1647C>G
1 paper
NM_001025356.3
p.M554I
c.1662G>A
1 paper
NM_001025356.3
p.M554I
c.1662G>C
1 paper
NM_001025356.3
p.M554I
c.1662G>T
1 paper
NM_001025356.3
p.F557L
c.1669T>C
1 paper
NM_001025356.3
p.F557V
c.1669T>G
1 paper
NM_001025356.3
p.F557L
c.1671C>A
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